{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T08:58:00Z","timestamp":1793177880441,"version":"4.5.0"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T00:00:00Z","timestamp":1610928000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T00:00:00Z","timestamp":1610928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/100012046","name":"Vietnam Academy of Science and Technology","doi-asserted-by":"publisher","award":["KHCBSS.02\/18-20"],"award-info":[{"award-number":["KHCBSS.02\/18-20"]}],"id":[{"id":"10.13039\/100012046","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Genes Genom"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1007\/s13258-020-01032-5","type":"journal-article","created":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T14:03:16Z","timestamp":1610978596000},"page":"115-121","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II"],"prefix":"10.1007","volume":"43","author":[{"given":"Thu Hien","family":"Nguyen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ngoc-Lan","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi Dung","family":"Vu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can Thi Bich","family":"Ngoc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ngoc Khanh","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6284-5813","authenticated-orcid":false,"given":"Huy Hoang","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,1,18]]},"reference":[{"issue":"6","key":"1032_CR1","doi-asserted-by":"publisher","first-page":"1407","DOI":"10.1002\/ajmg.a.61585","volume":"182","author":"GMH Abdel-Salam","year":"2020","unstructured":"Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT et al (2020) Microcephalic osteodysplastic primordial dwarfism type II: additional nine patients with implications on phenotype and genotype correlation. Am J Med Genet A 182(6):1407\u20131420. https:\/\/doi.org\/10.1002\/ajmg.a.61585","journal-title":"Am J Med Genet A"},{"issue":"2","key":"1032_CR2","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1007\/s11914-017-0348-1","volume":"15","author":"MB Bober","year":"2017","unstructured":"Bober MB, Jackson AP (2017) Microcephalic osteodysplastic Primordial dwarfism, type II: a clinical review. Curr Osteoporos Rep 15(2):61\u201369. https:\/\/doi.org\/10.1007\/s11914-017-0348-1","journal-title":"Curr Osteoporos Rep"},{"issue":"11","key":"1032_CR3","doi-asserted-by":"publisher","first-page":"2719","DOI":"10.1002\/ajmg.a.35447","volume":"158A","author":"MB Bober","year":"2012","unstructured":"Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EMHF et al (2012) Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet 158A(11):2719\u20132725. https:\/\/doi.org\/10.1002\/ajmg.a.35447","journal-title":"Am J Med Genet"},{"issue":"3","key":"1032_CR4","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1002\/ajmg.a.31009","volume":"139","author":"F Brancati","year":"2005","unstructured":"Brancati F, Castori M, Mingarelli R, Dallapiccola B (2005) Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am J Med Genet A 139(3):212\u2013215. https:\/\/doi.org\/10.1002\/ajmg.a.31009","journal-title":"Am J Med Genet A"},{"issue":"3","key":"1032_CR5","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1006\/geno.1996.0411","volume":"35","author":"H Chen","year":"1996","unstructured":"Chen H, Gos A, Morris MA, Antonarakis SE (1996) Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter. Genomics 35(3):620\u2013624. https:\/\/doi.org\/10.1006\/geno.1996.0411","journal-title":"Genomics"},{"key":"1032_CR6","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00340","author":"M Dehghan Tezerjani","year":"2020","unstructured":"Dehghan Tezerjani M, Vahidi Mehrjardi MY, Hozhabri H, Rahmanian M (2020) A novel PCNT frame shift variant (c.7511delA) causing osteodysplastic Primordial dwarfism of majewski Type 2 (MOPD II). Front Pediatr. https:\/\/doi.org\/10.3389\/fped.2020.00340","journal-title":"Front Pediatr"},{"issue":"1","key":"1032_CR7","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1002\/ajmg.10716","volume":"113","author":"R Fukuzawa","year":"2002","unstructured":"Fukuzawa R, Sato S, Sullivan MJ, Nishimura G, Hasegawa T, Matsuo N (2002) Autopsy case of microcephalic osteodysplastic primordial \u201cdwarfism\u201d type II. Am J Med Genet 113(1):93\u201396. https:\/\/doi.org\/10.1002\/ajmg.10716","journal-title":"Am J Med Genet"},{"issue":"6","key":"1032_CR8","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1093\/embo-reports\/kvd105","volume":"1","author":"AK Gillingham","year":"2000","unstructured":"Gillingham AK, Munro S (2000) The PACT domain, a conserved centrosomal targeting motif in the coiled-coil proteins AKAP450 and pericentrin. EMBO Rep 1(6):524\u2013529. https:\/\/doi.org\/10.1093\/embo-reports\/kvd105","journal-title":"EMBO Rep"},{"issue":"2","key":"1032_CR9","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1038\/ng.2007.80","volume":"40","author":"E Griffith","year":"2008","unstructured":"Griffith E, Walker S, Martin C-A, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC et al (2008) Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40(2):232\u2013236. https:\/\/doi.org\/10.1038\/ng.2007.80","journal-title":"Nat Genet"},{"issue":"1","key":"1032_CR10","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1002\/ajmg.a.30203","volume":"130A","author":"JG Hall","year":"2004","unstructured":"Hall JG, Flora C, Scott CI, Pauli RM, Tanaka KI (2004) Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am J Med Genet 130A(1):55\u201372. https:\/\/doi.org\/10.1002\/ajmg.a.30203","journal-title":"Am J Med Genet"},{"issue":"6","key":"1032_CR11","doi-asserted-by":"publisher","first-page":"1398","DOI":"10.1002\/ajmg.a.33984","volume":"155A","author":"P Kantaputra","year":"2011","unstructured":"Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT (2011) The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet A 155A(6):1398\u20131403. https:\/\/doi.org\/10.1002\/ajmg.a.33984","journal-title":"Am J Med Genet A"},{"issue":"6","key":"1032_CR12","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1097\/BPO.0000000000000183","volume":"34","author":"AF Karatas","year":"2014","unstructured":"Karatas AF, Bober MB, Rogers K, Duker AL, Ditro CP, Mackenzie WG (2014) Hip pathology in Majewski osteodysplastic primordial dwarfism type II. J Pediatr Orthop 34(6):585\u2013590. https:\/\/doi.org\/10.1097\/BPO.0000000000000183","journal-title":"J Pediatr Orthop"},{"issue":"1","key":"1032_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s00438-015-1110-y","volume":"291","author":"P Khetarpal","year":"2016","unstructured":"Khetarpal P, Das S, Panigrahi I, Munshi A (2016) Primordial dwarfism: overview of clinical and genetic aspects. Mol Genet Genom 291(1):1\u201315. https:\/\/doi.org\/10.1007\/s00438-015-1110-y","journal-title":"Mol Genet Genom"},{"issue":"1","key":"1032_CR14","doi-asserted-by":"publisher","first-page":"e87016","DOI":"10.1371\/journal.pone.0087016","volume":"9","author":"S Kim","year":"2014","unstructured":"Kim S, Rhee K (2014) Importance of the CEP215-pericentrin interaction for centrosome maturation during mitosis. PLoS One 9(1):e87016. https:\/\/doi.org\/10.1371\/journal.pone.0087016","journal-title":"PLoS One"},{"issue":"1","key":"1032_CR15","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1111\/j.1440-1673.1993.tb00029.x","volume":"37","author":"K Kozlowski","year":"1993","unstructured":"Kozlowski K, Donovan T, Masel J, Wright RG (1993) Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol 37(1):111\u2013114. https:\/\/doi.org\/10.1111\/j.1440-1673.1993.tb00029.x","journal-title":"Australas Radiol"},{"issue":"6","key":"1032_CR16","doi-asserted-by":"publisher","first-page":"1387","DOI":"10.1007\/s11011-015-9712-y","volume":"30","author":"FF Li","year":"2015","unstructured":"Li FF, Wang XD, Zhu MW, Lou ZH, Zhang Q, Zhu CY, Feng HL, Lin ZG, Liu SL (2015) Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms. Metab Brain Dis 30(6):1387\u20131394. https:\/\/doi.org\/10.1007\/s11011-015-9712-y","journal-title":"Metab Brain Dis"},{"issue":"14","key":"1032_CR17","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows\u2013Wheeler transform. Bioinf Oxf Engl 25(14):1754\u20131760. https:\/\/doi.org\/10.1093\/bioinformatics\/btp324","journal-title":"Bioinf Oxf Engl"},{"issue":"9","key":"1032_CR18","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M et al (2010) The genome analysis toolkit: a map reduce framework for analyzing next-generation DNA sequencing data. Genome Res 20(9):1297\u20131303. https:\/\/doi.org\/10.1101\/gr.107524.110","journal-title":"Genome Res"},{"key":"1032_CR19","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1186\/1752-1947-8-191","volume":"8","author":"H Pachajoa","year":"2014","unstructured":"Pachajoa H, Ruiz-Botero F, Isaza C (2014) A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report. J Med Case Rep 8:191. https:\/\/doi.org\/10.1186\/1752-1947-8-191","journal-title":"J Med Case Rep"},{"issue":"5864","key":"1032_CR20","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1126\/science.1151174","volume":"319","author":"A Rauch","year":"2008","unstructured":"Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH et al (2008) Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319(5864):816\u2013819. https:\/\/doi.org\/10.1126\/science.1151174","journal-title":"Science"},{"issue":"5","key":"1032_CR21","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med Off J Am Coll Med Genet 17(5):405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med Off J Am Coll Med Genet"},{"issue":"3","key":"1032_CR22","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1038\/s41436-018-0140-3","volume":"21","author":"R Shaheen","year":"2019","unstructured":"Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M et al (2019) Genomic and phenotypic delineation of congenital microcephaly. Genet Med Off J Am Coll Med Genet 21(3):545\u2013552. https:\/\/doi.org\/10.1038\/s41436-018-0140-3","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"1032_CR23","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24783","author":"S Unal","year":"2014","unstructured":"Unal S, Alanay Y, Cetin M, Boduro\u011flu K, Utine E, Cormier-Daire V, Huber C, Ozsurekci Y, K\u0131l\u0131\u00e7 E, Simsek-Kiper P et al (2014) Striking hematological abnormalities in patients with Microcephalic osteodysplastic Primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Pediatr Blood Cancer. https:\/\/doi.org\/10.1002\/pbc.24783","journal-title":"Pediatr Blood Cancer"},{"issue":"2","key":"1032_CR24","doi-asserted-by":"publisher","first-page":"113","DOI":"10.32598\/jpr.7.2.113","volume":"7","author":"R Vakili","year":"2019","unstructured":"Vakili R, Hashemian S (2019) Primordial dwarfism: a case series from North East of Iran and literature review. J Pediatr Rev 7(2):113\u2013120. https:\/\/doi.org\/10.32598\/jpr.7.2.113","journal-title":"J Pediatr Rev"},{"key":"1032_CR25","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13797","author":"S Waich","year":"2020","unstructured":"Waich S, Janecke AR, Parson W, Greber-Platzer S, M\u00fcller T, Huber LA, Valovka T, Vodopiutz J (2020) Novel PCNT variants in MOPD II with attenuated growth restriction and pachygyria. Clin Genet. https:\/\/doi.org\/10.1111\/cge.13797","journal-title":"Clin Genet"},{"issue":"2","key":"1032_CR26","doi-asserted-by":"publisher","first-page":"103643","DOI":"10.1016\/j.ejmg.2019.03.007","volume":"63","author":"K Weiss","year":"2020","unstructured":"Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T et al (2020) Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. Eur J Med Genet 63(2):103643. https:\/\/doi.org\/10.1016\/j.ejmg.2019.03.007","journal-title":"Eur J Med Genet"},{"issue":"12","key":"1032_CR27","doi-asserted-by":"publisher","first-page":"797","DOI":"10.1136\/jmg.2009.067298","volume":"47","author":"M Willems","year":"2010","unstructured":"Willems M, Genevi\u00e8ve D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, H\u00e9ron D et al (2010) Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel\/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet 47(12):797\u2013802. https:\/\/doi.org\/10.1136\/jmg.2009.067298","journal-title":"J Med Genet"}],"container-title":["Genes &amp; Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-020-01032-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s13258-020-01032-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s13258-020-01032-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T17:57:32Z","timestamp":1613757452000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s13258-020-01032-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,18]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["1032"],"URL":"https:\/\/doi.org\/10.1007\/s13258-020-01032-5","relation":{},"ISSN":["1976-9571","2092-9293"],"issn-type":[{"value":"1976-9571","type":"print"},{"value":"2092-9293","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,18]]},"assertion":[{"value":"1 September 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 December 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 January 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"Thu Hien Nguyen, Ngoc-Lan Nguyen, Chi Dung Vu, Can Thi Bich Ngoc, Ngoc Khanh Nguyen, Huy Hoang Nguyen declare that they have no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"<!--Emphasis Type='Bold' removed-->Conflict of interest"}},{"value":"This study was conducted in accordance with the Declaration of Helsinki and the protocol was approved by the Ethics Committee of the Institute of Genome Research (Institute of Genome Research Institutional Review Board, Hanoi, Vietnam, Reference no: 18\/QD-NCHG on 22 March 2018).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Written informed consent were obtained from the parents.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"The parents provided informed consent for publication of the images in Figs.\u00a01 and 2a and b.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"<!--Emphasis Type='Bold' removed-->Consent for publication"}}]}}